Genetics Home Reference:21 Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.

MalaCards based summary: Escobar Syndrome, also known as escobar variant multiple pterygium syndrome, is related to multiple pterygium syndrome, lethal type and myopathy, and has symptoms including webbed neck, pectus excavatum and limitation of joint mobility. An important gene associated with Escobar Syndrome is CHRNG (cholinergic receptor, nicotinic, gamma (muscle)), and among its related pathways are CREB Pathway and Peptide ligand-binding receptors. The compounds acetylcholine and galantamine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and testes.

NIH Rare Diseases:41 Multiple pterygium syndrome, escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. symptoms of escobar syndrome are present from birth. it can be caused by mutations in the chrng gene. it tends to be inherited in an autosomal recessive fashion.
last updated: 1/29/2010